Author

Zafar Ali

University of CopenhagenORCID 0000-0002-2389-3337Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Lars Allan LarseniD· 2 shared Muhammad FarooqiD· 2 shared Shahid Mahmood BaigiD· 2 shared Asif ur Rehman· 1 shared Brage Storstein AndreseniD· 1 shared Canan DoğanlıiD· 1 shared Daniel A. BairdiD· 1 shared Gitte Hoffmann BruuniD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Lars Allan LarsenORCID

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2 papers

Recent·Most cited

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR

Muhammad Farooq, Gitte Hoffmann Bruun, Menachem Viktor Sarusie, Line Kessel, Hamna Akhtar, Uzma Abdullah, Zafar Ali, Sajjad Ali Shah, Nijat Ali, Iram Anjum, Thomas Koed Doktor, Brage Storstein Andresen, Shahid Mahmood Baig, Lars Allan Larsen, Karen Grønskov

The paper reports molecular genetic diagnoses for 28 consanguineous OCA families and identifies a pathogenic deep intron variant in TYR that causes OCA through pseudoexon inclusion.

European Journal of Human Genetics · Mar 11, 2026Peer-reviewedGenetic & Genomic Medicine

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients

Daniel A. Baird, Hira Mubeen, Canan Doğanlı, Jasmijn B. Miltenburg, Oskar Kaaber Thomsen, Zafar Ali, Tahir Naveed, Asif ur Rehman, Shahid Mahmood Baig, Søren T. Christensen, Muhammad Farooq, Lars Allan Larsen

The paper identifies rare homozygous variants in cilia genes associated with congenital heart defects in consanguineous Pakistani patients.

Human Genetics · Sep 30, 2024Peer-reviewedGenetic & Genomic Medicine